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| Term | oculopharyngodistal myopathy 3 | ID (Ontology) | DOID:0081299 (Human Disease) |
| Definition | An oculopharyngodistal myopathy that is characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the NOTCH2NLC gene on chromosome 1q21. | ||
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autosomal genetic disease |__autosomal dominant disease____ myopathy | |__oculopharyngodistal myopathy__| oculopharyngodistal myopathy 3 |
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autosomal dominant disease oculopharyngodistal myopathy |
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| MIM:619473 | |||